Variant report

Variant	nsv967275
Chromosome Location	chr4:613727-614382
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:613849..616261-chr4:650426..653017,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545956906	chr4:613750-613751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546546819	chr4:613764-613765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374747440	chr4:613780-613781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369298694	chr4:613835-613836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4690183	chr4:613837-613838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560650014	chr4:613862-613863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75854922	chr4:613867-613868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78399730	chr4:613871-613872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564730248	chr4:613945-613946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146437186	chr4:613962-613963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184321085	chr4:613972-613973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35091443	chr4:614010-614011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535921597	chr4:614026-614027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74822291	chr4:614074-614075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59750537	chr4:614080-614081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140700610	chr4:614104-614105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557529295	chr4:614107-614108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576279904	chr4:614142-614143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180975922	chr4:614163-614164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555330073	chr4:614168-614169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573586151	chr4:614172-614173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541051379	chr4:614180-614181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7657150	chr4:614197-614198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374737015	chr4:614207-614208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113048299	chr4:614268-614269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564571307	chr4:614275-614276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568921802	chr4:614299-614300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532015815	chr4:614301-614302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550235062	chr4:614316-614317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562425828	chr4:614341-614342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78065261	chr4:614358-614359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547395258	chr4:614379-614380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:612400-616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links